Results 81 to 90 of about 2,439 (246)

Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.

PLoS ONE, 2017
The neurofibromatoses (neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis) are rare disorders having clinical manifestations that vary greatly from patient to patient.
Mindell Seidlin, Robert Holzman, Pamela Knight, Bruce Korf, Vanessa Rangel Miller, David Viskochil, Annette Bakker, Children’s Tumor Foundation   +7 more
doaj   +1 more source

Oral Levodopa Therapy, Vitamin B6 and Peripheral Neuropathy: A Cross‐Sectional Observational Study

Movement Disorders Clinical Practice, Volume 12, Issue 1, Page 120-122, January 2025.
Catherine Déry, Charlie Buchmann, Geneviève Labrecque, Vicky Caron, David Simonyan, Mathieu Blais, Manon Bouchard, Nicolas Dupré   +7 more
wiley   +1 more source

Therapeutic Development in Neurofibromatosis [PDF]

, 2019
Although neurofibromatosis (NF) was initially recognized in the nineteenth century, only in the past two decades we have witnessed a paradigm shift in therapeutics.
Korf, Bruce R., Lobbous, Mina
core   +1 more source

FEOCROMOCITOMA E NEUROFIBROMATOSE 1

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2014
Introdução: Feocromocitomas são tumores originários de células cromafins do sistema simpato-adrenal. As suas manifestações clínicas são múltiplas e diversificadas, função do perfil secretório variável de múltiplos compostos, incluindo catecolaminas ...
Rui Tavares-Bello, Mafalda Marcelino, Ema L. Nobre, Luís Lopes, Carlos Lopes, João Jácome de Castro   +5 more
doaj   +1 more source

Características del neurofibroma plexiforme en pacientes con neurofibromatosis tipo 1. Pinar del Río Characteristics of plexiform neurofibroma in patients suffering from Type-1 Neurofibromatosis. Pinar del Rio

Revista de Ciencias Médicas de Pinar del Río, 2012
El neurofibroma plexiforme es un tumor complejo, que involucra varios tejidos. Llevan a una distorsión masiva del lugar donde se encuentran, originando problemas estéticos y médicos. Con este trabajo se pretende conocer la frecuencia de los neurofibromas
Miladys Orraca Castillo, Deysi Licourt Otero   +1 more
doaj  

Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach

Case Reports in Psychiatry, 2019
Introduction. Cognitive and behavioural problems associated with Neurofibromatosis type 1 (NF1) are common sources of distress and the reasons behind seeking help.
Ana Moscoso, Aurélie Julien, Antoine Tanet, Angèle Consoli, Martine Pagnard, France Trevisan, Isabelle Kemlin, Diana Rodriguez, David Cohen   +8 more
doaj   +1 more source

Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients?

The Turkish Journal of Pediatrics, 2016
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and ...
Hikmet Gülşah Tanyıldız, Şule Yeşil, Ceyhun Bozkurt, Mehmet Onur Çandır, Sibel Akpınar-Tekgündüz, Şule Toprak, Deniz Yüksel, Gürses Şahin   +7 more
doaj   +1 more source

Gonadal and gonadosomatic mosaicism in NF1: report of two families

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 22, Issue 3, Page 426-428, March 2024.
Magdalena Seidl‐Philipp, Nathalie Veyt, Simon Schnaiter, Anne Krogsdam, Simon Schwendinger, Ophélia Maertens, Christine Fauth, Matthias Schmuth, Eric Legius, Katharina Wimmer, Hilde Brems   +10 more
wiley   +1 more source

Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis

BMC Health Services Research, 2018
Background Our primary aim was to assess the ability of a non-profit foundation-sponsored clinic network to facilitate access to specialized care for patients with neurofibromatoses (NF), a group of neurogenetic disorders including NF1, NF2, and ...
Vanessa L. Merker, Annie Dai, Heather B. Radtke, Pamela Knight, Justin T. Jordan, Scott R. Plotkin   +5 more
doaj   +1 more source

Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosaik: ein Bericht über zwei Familien

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 22, Issue 3, Page 426-429, March 2024.
Magdalena Seidl‐Philipp, Nathalie Veyt, Simon Schnaiter, Anne Krogsdam, Simon Schwendinger, Ophélia Maertens, Christine Fauth, Matthias Schmuth, Eric Legius, Katharina Wimmer, Hilde Brems   +10 more
wiley   +1 more source